4 citations,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
75 citations,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
103 citations,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
5 citations,
February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
2 citations,
July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
14 citations,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
2 citations,
December 2023 in “Journal of clinical immunology” Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
144 citations,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
2 citations,
November 2004 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
January 2024 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
January 2017 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
197 citations,
July 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
70 citations,
January 2014 in “International review of cell and molecular biology” Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
55 citations,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
53 citations,
February 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
35 citations,
October 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
31 citations,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
30 citations,
October 2020 in “Nature Communications” Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
25 citations,
August 2019 in “Endocrine Related Cancer” Mutations in certain receptors can cause diseases and offer new treatment options.
24 citations,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
7 citations,
November 2019 in “Clinics in Dermatology” Hair loss can indicate or worsen with systemic diseases, and treating the underlying condition is important.
7 citations,
December 2008 in “Expert Review of Dermatology” The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
5 citations,
February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
3 citations,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
3 citations,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
1 citations,
November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.